Variants studied for BRCA2-related cancer predisposition

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
166	17	523	222	30	951

Gene and significance breakdown #

Total genes and gene combinations: 5

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
BRCA2	161	16	522	222	30	944
TMEM132E	2	0	1	0	0	3
NALF1	2	0	0	0	0	2
BRCA2, LOC106721785	0	1	0	0	0	1
LINC00373	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
All of Us Research Program, National Institutes of Health	113	8	458	169	20	768
Department of Pathology and Laboratory Medicine, Sinai Health System	51	7	79	53	3	193
ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel, ClinGen	7	2	1	3	7	20
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital	0	1	0	0	0	1

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